A population study of chromosome 22q11 deletions in infancy

• DOI: 10.1136/adc.79.4.348
• Publication Date: 2009-01-07T21:17:23Z
• Authors: J. Goodship; I. Cross; J. LiLing; C. Wren
• Keywords: Trisomy

<h3>AIMS</h3> To determine the prevalence of submicroscopic deletions within chromosome band 22q11 in infants with significant heart disease and compare this other chromosomal abnormalities causing disease. a minimum general population. <h3>METHODS</h3> Chromosome analysis was performed on samples from born former UK Northern Health Region 1994 1995 who either had or were suspected to have deletion following referral Genetics Service. Significant defined as major structural malformation cases where invasive investigation intervention required infancy. <h3>RESULTS</h3> identified nine population 69 129 livebirths, giving 13 per 100 000 (95% confidence interval 4.5 21.5). Six disease, one whom died before diagnosis. In same there 53 trisomy 21, 15 <h3>CONCLUSION</h3> The most common cause congenital remains while second is 22q11.